Insertion Deletion Polymorphisms
Mostrando 13-24 de 75 artigos, teses e dissertações.
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13. Cardiac mass and left ventricular function in a sample of the Brazilian population: candidate genes / Massa cardíaca e função do ventrículo esquerdo em amostra da população brasileira: genes candidatos
Introduction: Left ventricular hypertrophy is an important risk factor for cardiovascular morbidity and mortality. Its association with the reninangiotensin system genetic variants is controversial. Objectives: To assess the association between left ventricular mass, left ventricle systolic and diastolic functions, and polymorphisms of the insertion/deletion
Publicado em: 2006
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14. Association of MYF5 gene allelic variants with production traits in pigs
We studied the phenotypic effects of polymorphisms at the MYF5 gene in a divergent F2 swine population and found that one polymorphism was due to an insertion and another to a deletion. The genotypes of 359 F2 animals were obtained and the Normal/Normal (NN) and Normal/Insertion (NI) genotypes analyzed to determine associations with phenotypic data for perfo
Genetics and Molecular Biology. Publicado em: 2005-09
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15. Effect of race, genetic population structure, and genetic models in two-locus association studies: clustering of functional renin-angiotensin system gene variants in hypertension association studies
Previous genetic association studies have overlooked the potential for biased results when analyzing different population structures in ethnically diverse populations. The purpose of the present study was to quantify this bias in two-locus association studies conducted on an admixtured urban population. We studied the genetic structure distribution of angiot
Brazilian Journal of Medical and Biological Research. Publicado em: 2001-11
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16. Human Diallelic Insertion/Deletion Polymorphisms
We report the identification and characterization of 2,000 human diallelic insertion/deletion polymorphisms (indels) distributed throughout the human genome. Candidate indels were identified by comparison of overlapping genomic or cDNA sequences. Average confirmation rate for indels with a ⩾2-nt allele-length difference was 58%, but the confirmation rate f
The American Society of Human Genetics.
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17. Polymorphisms of the insertion / deletion ACE and M235T AGT genes and hypertension: surprising new findings and meta-analysis of data
BioMed Central.
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18. Direct Detection of Insertion/Deletion Polymorphisms in an Autosomal Region by Analyzing High-Density Markers in Individual Spermatozoa
Direct polymerase chain reaction (PCR) detection of insertion/deletion (indel) polymorphisms requires sample homozygosity. For the indel polymorphisms that have the deletion allele with a relatively low frequency in the autosomal regions, direct PCR detection becomes difficult or impossible. The present study is, to our knowledge, the first designed to direc
The American Society of Human Genetics.
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19. Genetic uniformity in two populations of Drosophila melanogaster as revealed by filter hybridization of four-nucleotide-recognizing restriction enzyme digests.
A filter hybridization method is described for identifying restriction-site and insertion/deletion variation by using restriction enzymes that recognize four-nucleotide sequences and denaturing polyacrylamide gels for separating fragments. Eighty-seven lines of Drosophila melanogaster representing two natural populations were surveyed over a 2.7-kilobase reg
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20. Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots.
Two rare Sfi I polymorphisms of 360 kb and 280 kb present within the human T-cell antigen receptor beta-chain gene complex were revealed by pulsed-field gel electrophoresis. They represent allelic variants of the polymorphic 330- and 300-kb Sfi I fragments previously described. The 360-kb polymorphism results from duplication of the 30-kb DNA fragment respon
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21. ALFRED: an allele frequency database for diverse populations and DNA polymorphisms
We have developed a publicly accessible database (ALFRED, the ALlele FREquency Database) that catalogues allele frequency data for a wide range of population samples and DNA polymorphisms. This database is web-accessible through our laboratory (Kidd Lab) Web site: http://info.med.yale.edu/genetics/kkidd . ALFRED currently contains data on 60 populations and
Oxford University Press.
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22. The Genetic Structure of Natural Populations of Drosophila Melanogaster. Xxii. Comparative Study of DNA Polymorphisms in Northern and Southern Natural Populations
Restriction map variation in four gene regions (Adh, Amy, Pu and Gpdh) was surveyed for 86 second chromosomes from northern (Aomori) and southern (Ogasawara) Japanese populations of Drosophila melanogaster (43 chromosomes from each population). The regions examined cover a total of 62 kilobases. Estimates of nucleotide diversity (π) were approximately const
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23. Alu Insertion Polymorphisms and Human Evolution: Evidence for a Larger Population Size in Africa
Alu insertion polymorphisms (polymorphisms consisting of the presence/absence of an Alu element at a particular chromosomal location) offer several advantages over other nuclear DNA polymorphisms for human evolution studies. First, they are typed by rapid, simple, PCR-based assays; second, they are stable polymorphisms—newly inserted Alu elements rarely un
Cold Spring Harbor Laboratory Press.
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24. Minimal Introns Are Not “Junk”
Intron-size distributions for most multicellular (and some unicellular) eukaryotes have a sharp peak at their “minimal intron” size. Across the human population, these minimal introns exhibit an abundance of insertion-deletion polymorphisms, the effect of which is to maintain their optimal size. We argue that minimal introns affect function by enhancing
Cold Spring Harbor Laboratory Press.